Guidelines for the appropriate use of genetic tests in infertile couples

Foresta, Carlo; Ferlin, Alberto; Gianaroli, Luca; Dallapiccola, Bruno

doi:10.1038/sj.ejhg.5200805

Cited by 132 publications

(127 citation statements)

References 73 publications

(42 reference statements)

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“…It could be approximated that the overall incidence of a chromosomal factor in infertile males ranges between 2% to 8%, with a mean value of 5% [3]. This value increases to about 15% in azoospermic males, largely due to cases with 47,XXY aneuploidy.…”

Section: Introductionmentioning

confidence: 99%

Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review

Akgül

Özkınay

Erçal

et al. 2009

J Assist Reprod Genet

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Purpose In this study we aimed to evaluate the postnatally screened karyotype results in couples who were referred because of primary infertility between 2000 and 2006 in Izmir. Methods The records of a total of 179 cases were evaluated retrospectively. Results A total of 21 cases (11.74%) showed chromosomal alteration. Thirteen (7.26%) were 47,XXY; three (1.68%) were pericentric inversion of chromosome 9; one (0.56%) 46,XY/45,XO; one (0.56%) 46,XY/47,XXY/48,XXXY; one (0.56%) 46,XY,t(X;1); one (0.56%) 46,XY/46,XY,del (Y)(q11.2) and one (0.56%) 46,XX. ConclusionsThe rate of gonosomal chromosomal abnormalities was nearly three times higher in our region than the rate in the literature. Chromosomal analysis is strongly suggested particularly in those who suffer fertility problems.

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Section: Introductionmentioning

confidence: 99%

Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review

Akgül

Özkınay

Erçal

et al. 2009

J Assist Reprod Genet

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“…CF carrier testing in infertile couples (non-CBAVD couples) Recommendation of CF screening in the case of in vitro fertilization (IVF) procedures 62 is not widely shared among European Genetics societies, as the risk of carrying a CF mutation is not significantly higher than that of the general population. However, this issue may be discussed with couples in a genetic counselling session before IVF.…”

Section: Recommendations For Pnd Practicementioning

confidence: 99%

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Dequeker

Stuhrmann

Morris³

et al. 2008

Eur J Hum Genet

211

160

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The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000). The importance of organizing regional or national laboratory networks, to provide both primary and comprehensive CFTR mutation screening, is stressed. Current guidelines focus on strategies for dealing with increasingly complex situations of CFTR testing. Diagnostic flow charts now include testing in CFTR-related disorders and in fetal bowel anomalies. Emphasis is also placed on the need to consider ethnic or geographic origins of patients and individuals, on basic principles of risk calculation and on the importance of providing accurate laboratory reports. Finally, classification of CFTR mutations is reviewed, with regard to their relevance to pathogenicity and to genetic counselling.

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“…This possibility has suggested that all CBAVD individuals and their partners should undergo genetic testing of the most common CFTR mutations before ART. 16,17 However, the utility of screening the couples candidates for an ART procedure for problems not related to obstructive azoospermia in the male partner and without a family history of CF is still debated. 18 In this study we report the results of a multicentric molecular screening of the most common CFTR gene mutations in 1195 couples undergoing ART, due to different causes of infertility.…”

Section: Introductionmentioning

confidence: 99%

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

et al. 2005

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Genetic testing of the cystic fibrosis transmembrane conductance ( CFTR) gene is currently performed in couples undergoing assisted reproduction techniques ( ART), because of the high prevalence of healthy carriers in the population and the pathogenic relationship with congenital bilateral absence of vas deferens ( CBAVD). However, discordant data have been reported concerning the usefulness of this genetic test in couples with no family history of cystic fibrosis ( CF). In this study, we report the results of CFTR molecular screening in 1195 couples entering ART. Genetic testing was initially carried out in a single partner of each couple. CFTR mutations were detected in 55 subjects ( 4.6%), a percentage that overlaps with the one reported in the general population. However, significantly higher frequencies of were found in CBAVD individuals ( 37.5%) and in males with nonobstructive azoospermia ( 6.6%). The 5T allele was found in 78 patients ( 6.5%). This figure was again significantly different in males with nonobstructive-azoospermia ( 9.9%) and in those with CBAVD ( 100%). All together, 139 subjects ( 11.6%) had either a CFTR mutation or the 5T allele. Subsequent molecular analysis of their partners disclosed a CFTR mutation or 5T allele in nine cases ( 6.5%). However, none of these couples had CFTR alterations in both members, a CFTR mutation being invariably present in one partner and the 5T allele in the other. In order to improve genetic counselling of these couples, the TG-M470V-5T association was analyzed, and a statistically significant relationship between 12TG-V470 and CBAVD was detected

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Guidelines for the appropriate use of genetic tests in infertile couples

Cited by 132 publications

References 73 publications

Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review

Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

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